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Metabolic Endocrine And Genetic Disorders Of Children In 3 Volumes
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Book Synopsis Genetic and Metabolic Disease in Pediatrics by : June K. Lloyd
Download or read book Genetic and Metabolic Disease in Pediatrics written by June K. Lloyd and published by Butterworth-Heinemann. This book was released on 2014-04-24 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Book Synopsis Musculoskeletal Diseases 2021-2024 by : Juerg Hodler
Download or read book Musculoskeletal Diseases 2021-2024 written by Juerg Hodler and published by Springer Nature. This book was released on 2021 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book focuses on imaging of the musculoskeletal diseases. Over the last few years, there have been considerable advances in this area, driven by clinical as well as technological developments. The authors are all internationally renowned experts in their field. They are also excellent teachers, and provide didactically outstanding chapters. The book is disease-oriented and covers all relevant imaging modalities, with particular emphasis on magnetic resonance imaging. Important aspects of pediatric imaging are also included. IDKD books are completely re-written every four years. As a result, they offer a comprehensive review of the state of the art in imaging. The book is clearly structured with learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers easily navigate through the text. As an IDKD book, it is particularly valuable for general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic knowledge, and for clinicians interested in imaging as it relates to their specialty.
Author :Michael B. Ranke Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805594143 Total Pages :548 pages Book Rating :4.8/5 (55 download)
Book Synopsis Diagnostics of Endocrine Function in Children and Adolescents by : Michael B. Ranke
Download or read book Diagnostics of Endocrine Function in Children and Adolescents written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2011 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.
Book Synopsis Mitochondrial Medicine by : Saskia Koene
Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Calcium and Bone Disorders in Children and Adolescents by : J. Allgrove
Download or read book Calcium and Bone Disorders in Children and Adolescents written by J. Allgrove and published by Karger Medical and Scientific Publishers. This book was released on 2015-06-11 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.
Book Synopsis Metabolic, Endocrine, and Genetic Disorders of Children by : Vincent C. Kelley
Download or read book Metabolic, Endocrine, and Genetic Disorders of Children written by Vincent C. Kelley and published by . This book was released on 1974 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Inborn Metabolic Diseases by : K. Tada
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Book Synopsis Metabolic Diseases by : E. Gilbert-Barness
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Book Synopsis Pediatric Endocrinology, Two Volume Set by : Fima Lifshitz
Download or read book Pediatric Endocrinology, Two Volume Set written by Fima Lifshitz and published by CRC Press. This book was released on 2006-12-26 with total page 1348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Celebrating more than twenty years as the single best source in the field, this Fifth Edition has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 renowned contributors that comprehensively address every topic and trend relevant to the identification, diagnosis, and management of endocrine and endocrin
Book Synopsis Clinical Proceedings - Children's Hospital National Medical Center by : Children's Hospital National Medical Center
Download or read book Clinical Proceedings - Children's Hospital National Medical Center written by Children's Hospital National Medical Center and published by . This book was released on 1975 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Phosphate Metabolism by : Shaul Massry
Download or read book Phosphate Metabolism written by Shaul Massry and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.
Book Synopsis Hypercalcemia, An Issue of Endocrinology and Metabolism Clinics of North America,E-Book by : Claudio Marcocci
Download or read book Hypercalcemia, An Issue of Endocrinology and Metabolism Clinics of North America,E-Book written by Claudio Marcocci and published by Elsevier Health Sciences. This book was released on 2021-11-15 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hypercalcemia, An Issue of Endocrinology and Metabolism Clinics of North America,E-Book
Book Synopsis Endocrine and Metabolic Consequences of Childhood Obesity, Volume II by : Artur Mazur
Download or read book Endocrine and Metabolic Consequences of Childhood Obesity, Volume II written by Artur Mazur and published by Frontiers Media SA. This book was released on 2023-08-25 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Brook's Clinical Pediatric Endocrinology by : Mehul T. Dattani
Download or read book Brook's Clinical Pediatric Endocrinology written by Mehul T. Dattani and published by John Wiley & Sons. This book was released on 2019-11-04 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: The seventh edition of Brook's Clinical Pediatric Endocrinology has been compiled by an experienced editorial team and internationally renowned contributors; it presents basic science and clinical management of endocrine disorders for all involved in the care of children and adolescents. It provides treatments for a variety of hormonal diseases, including diabetes and hypoglycaemia, growth problems, thyroid disease and disorders of puberty, sexual differentiation, calcium metabolism, steroid metabolism and hypopituitarism.
Book Synopsis Pediatric Endocrinology by : Fima Lifshitz
Download or read book Pediatric Endocrinology written by Fima Lifshitz and published by CRC Press. This book was released on 2013-12-19 with total page 815 pages. Available in PDF, EPUB and Kindle. Book excerpt: Celebrating more than twenty years as the single best source in the field, this Fifth Edition has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 renowned contributors that comprehensively address every topic and trend relevant to the identification, diagnosis, and management of endocrine and endocrine-related diso
Book Synopsis Maternal-Fetal and Neonatal Endocrinology by : Christopher S. Kovacs
Download or read book Maternal-Fetal and Neonatal Endocrinology written by Christopher S. Kovacs and published by Academic Press. This book was released on 2019-10-12 with total page 1040 pages. Available in PDF, EPUB and Kindle. Book excerpt: Maternal-Fetal and Neonatal Endocrinology: Physiology, Pathophysiology, and Clinical Management systematically examines the normal and abnormal endocrinology of the pregnant and lactating female and of the fetus and neonate. This reference volume expands coverage of specific disorders and diseases beyond the current endocrinology content on the market, which in most cases has a paragraph or no mention at all about pregnancy or aspects of fetal/neonatal development. - Formalized source of maternal/fetal endocrine physiology and pathophysiology - Key reference for fellows and residents for rarer endocrine pathologies - Integrated presentation of new molecular and genetic causes of endocrine disorders - Bridges the experience/knowledge gap of endocrinopathies rarely encountered in pregnancy
Book Synopsis Yamada's Textbook of Gastroenterology, 3 Volume Set by : Timothy C. Wang
Download or read book Yamada's Textbook of Gastroenterology, 3 Volume Set written by Timothy C. Wang and published by John Wiley & Sons. This book was released on 2022-05-31 with total page 3309 pages. Available in PDF, EPUB and Kindle. Book excerpt: YAMADA’S Textbook of Gastroenterology For over 25 years, Yamada’s Textbook of Gastroenterology has been the most comprehensive gastroenterology reference book, combining an encyclopedic basic science approach to GI and liver disease with the latest clinical thinking, especially in diagnostic and therapeutic developments. It is universally respected across the globe. The original outstanding editorial team was led by Tadataka Yamada, MD, one of the world’s leading figures in GI research. This seventh edition of the Textbook features a new set of Editors-in-Chief and a new team of Associate Editors. This new editorial team has made substantial changes and updates to the Textbook, with a greater focus on the human microbiome, obesity, bariatric endoscopy and aging, along with consolidation of many older chapters. Led by Professor Michael Camilleri and Professor Timothy C. Wang, a stellar group of associate editors have once again combined with authors in their respective fields to communicate their vast fund of knowledge and experience to make the 7th edition of this iconic textbook the most comprehensive ever published.
